Isolated lissencephaly: report of four patients from two unrelated families.

abstract：:Making an accurate diagnosis is the first and most critical step in the treatment of pediatric epilepsy, but it can be a daunting challenge for clinicians. Seizure types and syndromes in infants and very young children do not present with the same clarity and consistency as in adults. Work is currently being done to r...

journal_title：Journal of child neurology

authors： Nordli DR Jr

更新日期：2002-01-01 00:00:00

abstract：:Brain abscesses are uncommon in neonates. Klebsiella pneumoniae is a very uncommon microbial agent to cause brain abscess. We report 2 infants with Klebsiella pneumoniae sepsis who developed brain abscesses. One infant was a premature neonate who required mechanical ventilation for respiratory distress syndrome and su...

journal_title：Journal of child neurology

authors： Sundaram V,Agrawal S,Chacham S,Mukhopadhyay K,Dutta S,Kumar P

更新日期：2010-03-01 00:00:00

abstract：:The relationship between somatic growth and neurocognitive outcome was studied in a cohort of 136 children with intrauterine growth retardation. The children were followed up from birth to 9 to 10 years of age by annual measurements of growth parameters, neurodevelopmental evaluations, and IQ. The rate of catch-up for...

journal_title：Journal of child neurology

authors： Fattal-Valevski A,Toledano-Alhadef H,Leitner Y,Geva R,Eshel R,Harel S

更新日期：2009-07-01 00:00:00

abstract：:The clinical label attention deficit hyperactivity disorder (ADHD) suggests that this syndrome is a disorder of attention. However, the presumed attentional deficits have not been linked either to specific cognitive operations or to specific neural systems. To provide this link, theories of the cognitive anatomy of at...

journal_title：Journal of child neurology

authors： Swanson JM,Posner M,Potkin S,Bonforte S,Youpa D,Fiore C,Cantwell D,Crinella F

更新日期：1991-01-01 00:00:00

abstract：:Nonconvulsive status epilepticus is a prolonged and continuous state of increased unawareness without overt motor seizures linked with repetitive generalized epileptic discharges. In children, it may occur de novo but more commonly may complicate a preexisting epileptic disorder. We report on a 2-year-old female who p...

journal_title：Journal of child neurology

authors： Shinawi M,Shahar E

更新日期：2001-03-01 00:00:00

abstract：:To describe the spectrum and associated clinical features of peripheral and cerebral vasculopathy in pediatric patients with neurofibromatosis type 1, children seen at a single center from 2000 to 2010 with appropriate imaging studies were identified. Scans were assessed for vascular disease by 2 pediatric neuroradiol...

journal_title：Journal of child neurology

authors： Kaas B,Huisman TA,Tekes A,Bergner A,Blakeley JO,Jordan LC

更新日期：2013-05-01 00:00:00

abstract：:Young children with sickle cell disease are at risk of brain damage, including stroke. We tested the hypothesis that such patients are also at risk of cognitive impairment. We characterized the cognitive ability of kindergarten children to minimize the effect of disease-related school absence. The Memphis City Schools...

journal_title：Journal of child neurology

authors： Steen RG,Hu XJ,Elliott VE,Miles MA,Jones S,Wang WC

更新日期：2002-02-01 00:00:00

abstract：:Neuronal ceroid lipofuscinosis is a hereditary disease, and ceroid-lipofuscinosis neuronal protein 5 (CLN5) has been proved to be associated with neuronal ceroid lipofuscinosis. Here we report 3 patients from 2 families diagnosed with CLN5 neuronal ceroid lipofuscinosis. Whole genome sequencing of DNAs from 3 patients...

journal_title：Journal of child neurology

authors： Ge L,Li HY,Hai Y,Min L,Xing L,Min J,Shu HX,Mei OY,Hua L

更新日期：2018-11-01 00:00:00

abstract：:Sensory rhizotomy in the treatment of spasticity has been evolving over the past century since its first use in 1888. This paper reviews its historical evolution, current physiologic basis, range in current surgical technique, and the outcome, along with complications seen over the past decade since its repopularizati...

journal_title：Journal of child neurology

authors： Abbott R

更新日期：1996-11-01 00:00:00

abstract：:Erythromelalgia is a rare condition characterized by episodic painful erythema and warmth often affecting, but not limited to, the distal extremities. This condition is notoriously difficult to treat. We report a young female patient with seronegative polyarthritis who presented with a 6-year history of recurrent bout...

journal_title：Journal of child neurology

authors： Moody S,Pacheco S,Butler IJ,Koenig MK

更新日期：2012-07-01 00:00:00

abstract：:Recently, a new disease entity has been defined: the disease of vanishing white matter. This leukoencephalopathy has an autosomal-recessive mode of inheritance. No cause or biochemical marker is known. We studied cerebrospinal fluid amino acids in five patients with the disease and found a consistent, moderate elevati...

journal_title：Journal of child neurology

authors： van der Knaap MS,Wevers RA,Kure S,Gabreëls FJ,Verhoeven NM,van Raaij-Selten B,Jaeken J

更新日期：1999-11-01 00:00:00

abstract：:To report the authors' experience with diagnosis and management of Dravet syndrome, or severe myoclonic epilepsy in infancy, in the era of commercially available genetic testing, the authors performed a retrospective study of 16 patients diagnosed with Dravet syndrome at a tertiary care pediatric epilepsy center. They...

journal_title：Journal of child neurology

authors： Korff C,Laux L,Kelley K,Goldstein J,Koh S,Nordli D Jr

更新日期：2007-02-01 00:00:00

abstract：:Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in 10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor handicap. About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene (MECP2). The role of this gene in the pathogenesis of ...

journal_title：Journal of child neurology

authors： Armstrong DD

更新日期：2005-09-01 00:00:00

abstract：:The purpose of this study was to determine which clinical characteristics correlated with abnormal computed tomographic (CT) scans in epileptic children. Thirty variables were examined. Of these, four variables (presence of inherited or congenital disease, focal motor findings, developmental delay, and early onset of ...

journal_title：Journal of child neurology

authors： Koprowski C,Clancy R

更新日期：1986-04-01 00:00:00

abstract：:Apneic neonatal seizures can present as apparent life-threatening events. We report a newborn with unexplained episodes of apnea associated with cyanosis and desaturation, starting on the first day postpartum. Biochemical tests were normal. Central nervous system infections as well as abnormalities of upper airways an...

journal_title：Journal of child neurology

authors： Khajeh L,Cherian PJ,Swarte RM,Smit LS,Lequin MH

更新日期：2014-07-01 00:00:00

abstract：:The aim of this study was to investigate the influence of metabolic control on quantitative electroencephalographic (EEG) abnormalities in young diabetic patients. We compared quantitative EEGs of 44 insulin-dependent diabetic patients with age-matched controls. Furthermore, differences in EEG variables of diabetic pa...

journal_title：Journal of child neurology

authors： Hauser E,Strohmayer C,Seidl R,Birnbacher R,Lischka A,Schober E

更新日期：1995-07-01 00:00:00

abstract：:Hypertensive encephalopathy is an uncommon but recognized complication of malignant hypertension in children. We reviewed the clinical course, laboratory studies, and outcomes of 12 patients with hypertensive encephalopathy seen at the University of Iowa Hospitals and Clinics between 1979 and 1994. The most common pre...

journal_title：Journal of child neurology

authors： Wright RR,Mathews KD

更新日期：1996-05-01 00:00:00

abstract：:This is a case report of an otherwise healthy 2-year-old boy with a history of pica, associated with iron deficiency anemia. This boy was referred to our department for a neurologic evaluation because of an acute episode of sialorrhea, difficulty in speaking, dysphagia, and repeated swallowing movements. An uncertain ...

journal_title：Journal of child neurology

authors： Mihailidou H,Galanakis E,Paspalaki P,Borgia P,Mantzouranis E

更新日期：2002-11-01 00:00:00

abstract：BACKGROUND:Acute flaccid myelitis has emerged as the leading cause of acute flaccid paralysis in children. Acute flaccid myelitis leads to significant physical disability; hence, objective outcome measures to study disease severity and progression are desirable. In addition, nerve transfer to improve motor function in ...

journal_title：Journal of child neurology

authors： Patel R,Gombolay GY,Peljovich AE,Conklin J,Blackwell LS,Howarth R,Wolf DS,Upadhyayula SR,Verma S

更新日期：2020-11-01 00:00:00

abstract：:In this report, we have summarized our 9-year experience of over 100 proven cases of lysosomal storage disease using electron microscopic evaluation of skin biopsies as a screening tool. The skin biopsy was very specific in establishing the diagnosis in only two disorders, namely neuronal ceroid lipofuscinosis and muc...

journal_title：Journal of child neurology

authors： Prasad A,Kaye EM,Alroy J

更新日期：1996-07-01 00:00:00

abstract：:The association between tuberous sclerosis complex and intracranial abnormalities such as hemimegalencephaly, schizencephaly, intracranial arterial aneurysms, and corpus callosum agenesis/dysplasia has been reported in the recent literature. However, the association between tuberous sclerosis complex and bilateral tem...

journal_title：Journal of child neurology

authors： Tatli M,Guzel A

更新日期：2007-06-01 00:00:00

abstract：:A large body of evidence suggests that genetic factors influence liability to many common neurodevelopmental disorders. Examples include Tourette syndrome, attention-deficit hyperactivity disorder, autism, and dyslexia. Characterization of the genetic component of susceptibility to these conditions at a molecular leve...

journal_title：Journal of child neurology

authors： Ryan SG

更新日期：1999-03-01 00:00:00

abstract：:The clinical picture, family history, laboratory data, treatment modalities, and outcome in 27 juvenile myasthenics seen over a 25-year period are presented. Onset was after 10 years of age in the majority of patients. Half presented with ocular signs, the other half with generalized-onset myasthenia. Half of those wi...

journal_title：Journal of child neurology

authors： Afifi AK,Bell WE

更新日期：1993-10-01 00:00:00

abstract：:We report the clinical, electroencephalographic, neurophysiologic, and neuroimaging findings in eight children with infant-onset progressive myoclonus epilepsy, all of whom had muscle biopsies performed as as part of the diagnostic evaluation. Each child had myoclonic seizures, generalized tonic-clonic seizures, and n...

journal_title：Journal of child neurology

authors： Harbord MG,Hwang PA,Robinson BH,Becker LE,Hunjan A,Murphy EG

更新日期：1991-04-01 00:00:00

abstract：:Seizures occur more frequently early in life. Some of these early seizures may eventually become epilepsy. Others are reactive seizures due to excessive environmental stimuli that, in any other age group, might not have elicited a similar response. To understand the developmental aspects of seizures and epilepsy in hu...

journal_title：Journal of child neurology

authors： Kubová H,Moshé SL

更新日期：1994-10-01 00:00:00

abstract：:We reviewed cranial sonographic studies done on 108 normal newborn infants to determine the prevalence and variability in size of the cavum septi pellucidi (CSP). Infants were classified according to gestational age by 2-week intervals. At 24 weeks, only four normal scans were identified. Between 26 and 34 weeks, ten ...

journal_title：Journal of child neurology

authors： Mott SH,Bodensteiner JB,Allan WC

更新日期：1992-01-01 00:00:00

abstract：:Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory fea...

journal_title：Journal of child neurology

authors： Jong Hee Chae,Ki Joong Kim,Yong Seung Hwang,Ki CS,Kim JW

更新日期：2007-11-01 00:00:00

abstract：:There is increased necessity to focus research on school-aged athletes with sports-related concussion (SRC). This study assessed differences in symptom reporting and neurocognitive performance in youth athletes who sustained a sports-related concussion. A total of 1345 concussed and 3529 nonconcussed athletes (ages 8-...

journal_title：Journal of child neurology

authors： Murdaugh DL,Ono KE,Morris SO,Burns TG

更新日期：2018-06-01 00:00:00

abstract：AIMS:To conduct a review of the literature on the use of botulinum toxin for the treatment of pediatric chronic migraine. METHODS:A review of the literature was performed using EMBASE, PubMed, and Cochrane/Ovid. Using our inclusion and exclusion criteria, we targeted any study, published before April 2020, evaluating ...

journal_title：Journal of child neurology

authors： Marcelo R,Freund B

更新日期：2020-10-01 00:00:00

abstract：:Retinoblastoma is the most common primary intraocular malignancy of childhood. It typically presents with leukocoria or strabismus. In later stages of the disease, the child may exhibit proptosis, buphthalmos, or hypopyon. The pathognomonic molecular aberration is a loss of function mutation in the RB1 gene on chromos...

journal_title：Journal of child neurology

authors： Ortiz MV,Dunkel IJ

更新日期：2016-02-01 00:00:00